Manual transfer of experimentally-verified manual GO annotation data to orthologs by curator judgment of sequence similarity.
Gene Ontology annotation based on UniProtKB/Swiss-Prot Subcellular Location vocabulary mapping, accompanied by conservative changes to GO terms applied by UniProt.
C11orf70 Mutations Disrupting the Intraflagellar Transport-Dependent Assembly of Multiple Axonemal Dyneins Cause Primary Ciliary Dyskinesia.
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CFAP300 is essential for assembly of both outer and inner dynein arms
"In summary, C11orf70 is essential for assembly of dynein arms and C11orf70 mutations cause defective cilia motility and PCD."
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The protein localizes mainly in the cytoplasm with IFT-dependent transport within cilia
"Tagged C11orf70 in Paramecium and Chlamydomonas localizes mainly in the cytoplasm with a small amount in the ciliary component."
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Loss of CFAP300 causes combined ODA+IDA loss and immotile cilia
"The affected children share a consistent PCD phenotype from early life with laterality defects and immotile respiratory cilia displaying combined loss of inner and outer dynein arms (IDA+ODA)."
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During ciliogenesis, CFAP300 accumulates at ciliary tips similar to IFT-B proteins
"During ciliogenesis, C11orf70 accumulates at the ciliary tips in a similar distribution to the IFT-B protein IFT46."
Mutations in C11orf70 Cause Primary Ciliary Dyskinesia with Randomization of Left/Right Body Asymmetry Due to Defects of Outer and Inner Dynein Arms.
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CFAP300 is involved in cytoplasmic assembly of dynein arms
"indicating that C11orf70 is involved in cytoplasmic assembly of dynein arms."
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CFAP300 interacts with cytoplasmic ODA/IDA assembly factor DNAAF2
"Furthermore, C11orf70 shows an interaction with cytoplasmic ODA/IDA assembly factor DNAAF2, supporting our hypothesis that C11orf70 is a preassembly factor involved in the pathogenesis of PCD."
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Expression is upregulated during ciliogenesis in ciliated respiratory cells
"Expression analyses of C11orf70 showed that C11orf70 is expressed in ciliated respiratory cells and that the expression of C11orf70 is upregulated during ciliogenesis, similar to other previously described cytoplasmic dynein-arm assembly factors."
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Loss-of-function causes immotility due to combined ODA+IDA loss
"Transmission electron microscopy analyses and high-resolution immunofluorescence microscopy demonstrate that loss-of-function mutations in C11orf70 cause immotility of respiratory cilia and sperm flagella, respectively, as a result of the loss of axonemal outer (ODAs) and inner dynein arms (IDAs)"
Deep research on CFAP300 function
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CFAP300 functions in cytoplasmic preassembly and IFT-dependent trafficking of dynein arms
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Patient cells show depleted cytoplasmic and axonemal CFAP300 signal
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Mutations also cause male infertility due to sperm flagellar dynein loss
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Diagnostic evaluation includes TEM, immunofluorescence, HSVM, and genetic testing
OpenScientist focused review of CFAP300 dynein preassembly mechanism
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The focused hypothesis review judged the scaffold/adaptor/chaperone hypothesis partially supported as a critique of generic protein binding but mechanistically unresolved as a specific molecular-function assignment.
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The strongest actionable GO curation lead was axonemal dynein complex assembly and the ODA/IDA assembly child processes, which are already represented in this review.
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Specific dynein complex binding, molecular adaptor activity, and chaperone activity were judged premature without direct biochemical or proximity evidence.
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Dynein axonemal particle localization was judged a low-to-moderate-priority consideration because direct CFAP300 localization to DynAPs has not been tested.